What are the other Names for this Condition? (Also known as/Synonyms)

• EK (Erythrokeratoderma)
• Erythrokeratodermia

What is Erythrokeratoderma? (Definition/Background Information)

• Erythrokeratoderma is a benign skin condition, wherein as the name suggests, the skin is red (erythematous) and thickened with the presence of scaling (or hyperkeratosis). The skin condition is considered to be a pattern of skin findings and not a disease/condition in itself
• Erythrokeratoderma can be caused by a variety of conditions, which are mostly congenital or uncommonly acquired. In many cases, a positive family history associated with several genetic disorders are seen in individuals with this skin condition
• The skin redness and thickening can be focal (localized) or widespread (diffuse) and the manifestation is based on the underlying disorder or condition. Any part of the body skin may be affected
• A diagnosis of Erythrokeratoderma can be made by clinical exam, skin exam, skin biopsy, and various other diagnostic tools including dermoscopy and wood’s lamp examination. However, the diagnosis is often secondary to the underlying cause
• The treatment of Erythrokeratoderma is based on the underlying cause of the condition. However, the treatment of thickened skin may include the use of moisturizers, topical creams, and skin softeners
• The prognosis of Erythrokeratoderma depends upon the severity of the symptoms, the response to treatment, and most importantly, upon the severity of the underlying condition

According to some reports, the 2 major subtypes of Erythrokeratoderma include the following:

• Erythrokeratoderma variabilis (EKV)
• Erythrokeratoderma Progressiva Symmetrica (or PSEK), also known as Progressive Symmetric Erythrokeratoderma

Some of the other uncommon variants of Erythrokeratoderma that have been described in the medical literature include:

• Annular migrating erythrokeratoderma
• Erythrokeratoderma en cocardes (Degos syndrome)
• Erythrokeratoderma-like lesions in keratitis, ichthyosis, and deafness (KID) syndrome
• Erythrokeratoderma with ataxia
• Erythrokeratoderma with periorificial lesions
• Ichthyosiform erythroderma with changing pattern of annular erythema
• Localized erythrokeratoderma
• Progressive partially symmetrical erythrokeratoderma with peripheral neuropathy and deafness
• Reticular erythrokeratoderma

Who gets Erythrokeratoderma? (Age and Sex Distribution)

• Erythrokeratoderma may be observed in a wide age range of individuals
• The age and gender distribution, racial and ethnic preference (if any), all depend upon the underlying cause of the skin condition

What are the Risk Factors for Erythrokeratoderma? (Predisposing Factors)

The risk factors for Erythrokeratoderma are contingent upon the underlying cause of the condition.

• In congenital cases, a positive family history associated with a variety of genetic disorders that are mostly autosomal dominant in inheritance
• Acquired cases of Erythrokeratoderma do not have a positive family history

The following factors are known to aggravate the condition:

• Severe emotional stress
• Seasonal temperature changes - extreme hot and cold weather conditions
• Abnormal friction on the skin such as from tight-fitting clothes

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Erythrokeratoderma?

Erythrokeratoderma may be caused by several diseases, disorders, or syndromes.

• The underlying cause of Erythrokeratoderma may be acquired or congenital; congenital cases usually follow an autosomal dominant pattern of inheritance
  • Genetic mutations in the connexin genes (genes responsible for connexion protein) have been noted, which are responsible for forming connection between the cells
  • Due to the genetic abnormalities, the protein builds-up in the skin cells resulting in early death of these cells
  • This is manifested as the signs and symptoms of the condition, including skin inflammation and redness, etc.
• The genetic mutations may be inherited or sporadic (acquired). Sporadic mutations can become inherited in subsequent generations

Erythrokeratoderma is not a contagious infection and it does not spread from one individual to another via physical contact.

What are the Signs and Symptoms of Erythrokeratoderma?

The signs and symptoms of the underlying cause of Erythrokeratoderma can be present at birth in inherited cases; in case of sporadic mutations, the signs and symptoms can occur at any age.

The skin signs and symptoms associated with Erythrokeratoderma may include:

• Red flaky skin that can occur anywhere in the body; it depends on the underlying cause
• In some individuals, the skin condition is localized; while in others, it may be generalized
• The presence of well-circumscribed plaques/patches
• Depending on the cause, symmetric involvement of the body can be noted, or an asymmetrical pattern is seen
• Severe itching may be present on the affected skin
• In some, a burning sensation due to the skin lesions may be observed
• Scratching the skin lesions may result in bleeding and ulceration
• Depending on the underlying cause, abnormalities in hair and nails may be noted in some cases; while in others, it may be absent
• Other signs and symptoms of the underlying condition may be noted

The severity and range of signs and symptoms can vary from one individual to another. The variation may be present within members of the same family too.

How is Erythrokeratoderma Diagnosed?

The diagnosis of Erythrokeratoderma may involve the following tests and exams:

• A complete evaluation of medical history along with a thorough examination of the skin lesions by a dermatologist
• The healthcare provider may also ask many questions related to the individual’s age, family medical history, current medications, cosmetics, body lotions used, other medical conditions, infections, etc.
• Tests and procedures to establish the underlying cause of Erythrokeratoderma may have to be undertaken
• Genetic tests and analysis to identify the genes involved (when possible)
• Dermoscopy: It is a diagnostic tool where a dermatologist examines the skin using a special magnified lens
• Wood’s lamp examination: In this procedure, the healthcare provider examines the skin using ultraviolet light. It is performed to examine the change in skin pigmentation
• Skin biopsy: A skin biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Erythrokeratoderma?

Complications associated with Erythrokeratoderma include complications associated with the cause of the condition.

• In some individuals, it can cause severe emotional stress and cosmetic concerns
• Bleeding and ulceration can result in secondary bacterial and fungal infections
• Permanent scarring of skin
• One’s quality of life may be affected

How is Erythrokeratoderma Treated?

Generally, there is no cure for Erythrokeratoderma. The treatment is based upon the cause of the condition. The signs and symptoms are suitably managed and mitigated in a majority of the individuals through adequate treatment.

However, the skin condition/skin lesions may be addressed through skin softening treatment measures such as:

• Use of skin moisturizing creams and lotions; ointments containing vitamin D
• Steroid creams and topical retinoids
• Oral retinoid therapy
• Keratolytic therapy: It involves treatment using a variety of medications such as salicylic acid, urea, lactic acid, benzoyl peroxide, which helps with thickened skin due to scaling

How can Erythrokeratoderma be Prevented?

The prevention of Erythrokeratoderma depends upon the underlying cause of the skin condition. It may not be preventable in a majority of individuals. However, in case of an inherited condition, the following may be noted:

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Erythrokeratoderma? (Outcomes/Resolutions)

• The prognosis of Erythrokeratoderma may depend on a set of several factors including the:
  • Underlying cause and severity of its signs and symptoms
  • Response to therapy of the underlying cause of Erythrokeratoderma
• Even though the skin condition (keratoderma) is benign, the overall prognosis is based on the severity of the underlying condition and can be established only on a case-by-case basis
• Regular follow up visits with the healthcare providers are important and may be recommended

Additional and Relevant Useful Information for Erythrokeratoderma:

Cleaning the skin too hard with strong chemicals or soaps may aggravate the skin condition. Care must be taken avoid strong soaps and chemicals that could potentially worsen the condition.